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GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localizationThe sonic hedgehog-patched-gli pathway in human development and diseaseMolecular analysis of SALL1 mutations in Townes-Brocks syndrome.Hedgehog signaling inhibitors as anti-cancer agents in osteosarcomaThe Hedgehog signalling pathway in bone formationMutation analyses of North American APS-1 patientsThe expression of Gli3, regulated by HOXD13, may play a role in idiopathic congenital talipes equinovarusHuman GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers.Reconstructing the history of human limb development: lessons from birth defects.Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb developmentControlling destiny through chemistry: small-molecule regulators of cell fate.Genetic disorders of the skeleton: a developmental approachMolecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsThe VACTERL association: lessons from the Sonic hedgehog pathway.SALL1 mutations in Townes-Brocks syndrome and related disorders.Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.Polydactyly: how many disorders and how many genes?Polydactyly: how many disorders and how many genes? 2010 update.Comparative synteny cloning of zebrafish you-too: mutations in the Hedgehog target gli2 affect ventral forebrain patterning.Identification and functional characterization of novel transcriptional enhancers involved in regulating human GLI3 expression during early development.Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlationsSonic Hedgehog Signaling and VACTERL Association.The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.Recent perspectives on the genetic background of neural tube defects with special regard to iniencephaly.The Human Glioma-Associated Oncogene Homolog 1 (GLI1) Family of Transcription Factors in Gene Regulation and Diseases.Hedgehog pathway and GLI1 isoforms in human cancer.Pallister-Hall syndrome has gone the way of modern medical genetics.Cooperative requirement of the Gli proteins in neurogenesisThe role of hedgehog signalling in skeletal health and disease.Advances in the molecular genetics of non-syndromic polydactyly.GLI-2 modulates retroviral gene expression.Identification, functional characterization, and pathobiological significance of GLI1 isoforms in human cancers.Vertebrate homologs of Drosophila suppressor of fused interact with the gli family of transcriptional regulators.A novel Gli3 enhancer controls the Gli3 spatiotemporal expression pattern through a TALE homeodomain protein binding siteCis-regulatory underpinnings of human GLI3 expression in embryonic craniofacial structures and internal organs.GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.
P2860
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P2860
description
1997 nî lūn-bûn
@nan
1997 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutation in GLI3 in postaxial polydactyly type A
@ast
Mutation in GLI3 in postaxial polydactyly type A
@en
Mutation in GLI3 in postaxial polydactyly type A
@en-gb
Mutation in GLI3 in postaxial polydactyly type A
@nl
type
label
Mutation in GLI3 in postaxial polydactyly type A
@ast
Mutation in GLI3 in postaxial polydactyly type A
@en
Mutation in GLI3 in postaxial polydactyly type A
@en-gb
Mutation in GLI3 in postaxial polydactyly type A
@nl
prefLabel
Mutation in GLI3 in postaxial polydactyly type A
@ast
Mutation in GLI3 in postaxial polydactyly type A
@en
Mutation in GLI3 in postaxial polydactyly type A
@en-gb
Mutation in GLI3 in postaxial polydactyly type A
@nl
P2093
P2860
P356
P1433
P1476
Mutation in GLI3 in postaxial polydactyly type A
@en
P2093
K H Grzeschik
S E Antonarakis
U Radhakrishna
P2860
P2888
P304
P356
10.1038/NG1197-269
P407
P577
1997-11-01T00:00:00Z
P5875
P6179
1049471552